Appendix 3 of Ravesh, Mol Vis 2015; 21:236-243.

Appendix 3. List of variants identified after filtering the exome sequencing data from patient 863.

The chromosome, position, gene, coding effect, transcript accession number, exon, cDNA and protein changes as well as the minor allele frequencies in the exome variant server and the 1000 Genomes database are shown for the 73 homozygous variants. The C8orf37 mutation is highlighted in bold. To access the data, click or select the words “Appendix 3.”